InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MBNL1

Summary

InnateDB Protein

IDBP-61707.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MBNL1

Protein Name

muscleblind-like (Drosophila)

Synonyms

EXP; EXP35; EXP40; EXP42; MBNL;

Species

Homo sapiens

Ensembl Protein

ENSP00000350064

InnateDB Gene

IDBG-61701 (MBNL1)

Protein Structure

UniProt Annotation

Function

Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y- 3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. {ECO:0000269PubMed:10970838, ECO:0000269PubMed:15257297, ECO:0000269PubMed:16946708, ECO:0000269PubMed:18335541, ECO:0000269PubMed:19470458}.

Subcellular Localization

Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy.

Disease Associations

Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.

Tissue Specificity

Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:10970838, ECO:0000269PubMed:11929853}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	22 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0003725	double-stranded RNA binding
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding
GO:0046872	metal ion binding

Biological Process

GO:0001701	in utero embryonic development
GO:0007399	nervous system development
GO:0008380	RNA splicing
GO:0030326	embryonic limb morphogenesis
GO:0043484	regulation of RNA splicing
GO:0045445	myoblast differentiation